ETL3
MCID: EPL128
MIFTS: 32

Epilepsy, Familial Temporal Lobe, 3 (ETL3)

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Epilepsy, Familial Temporal Lobe, 3

MalaCards integrated aliases for Epilepsy, Familial Temporal Lobe, 3:

Name: Epilepsy, Familial Temporal Lobe, 3 58
Epilepsy, Familial Mesial Temporal Lobe 58 13 74
Familial Temporal Lobe Epilepsy 3 12 15
Fmtle 58 12
Epilepsy, Familial Mesial Temporal Lobe; Fmtle 58
Familial Mesial Temporal Lobe Epilepsy 12
Etl3 58

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
relatively benign course
onset usually in second decade
genetic heterogeneity (see etl2, )


HPO:

33
epilepsy, familial temporal lobe, 3:
Inheritance heterogeneous autosomal dominant inheritance


Classifications:



Summaries for Epilepsy, Familial Temporal Lobe, 3

Disease Ontology : 12 A temporal lobe epilepsy characterized by simple or complex partial seizures often accompanied by intense feelings of deja or altered awareness and that has material basis in variation in the chromosome region 4q13.2-q21.3.

MalaCards based summary : Epilepsy, Familial Temporal Lobe, 3, also known as epilepsy, familial mesial temporal lobe, is related to febrile seizures, familial, 11 and temporal epilepsy, familial, and has symptoms including dizziness An important gene associated with Epilepsy, Familial Temporal Lobe, 3 is FMTLE (Epilepsy, Familial Mesial Temporal Lobe). Affiliated tissues include temporal lobe, and related phenotypes are vertigo and focal impaired awareness seizure

Description from OMIM: 611630

Related Diseases for Epilepsy, Familial Temporal Lobe, 3

Graphical network of the top 20 diseases related to Epilepsy, Familial Temporal Lobe, 3:



Diseases related to Epilepsy, Familial Temporal Lobe, 3

Symptoms & Phenotypes for Epilepsy, Familial Temporal Lobe, 3

Human phenotypes related to Epilepsy, Familial Temporal Lobe, 3:

33
# Description HPO Frequency HPO Source Accession
1 vertigo 33 HP:0002321
2 focal impaired awareness seizure 33 HP:0002384
3 focal aware seizure 33 HP:0002349
4 deja vu 33 HP:0012005

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
dizziness
complex partial seizures
simple partial seizures
no hippocampal sclerosis
deja vu feeling
more

Clinical features from OMIM:

611630

UMLS symptoms related to Epilepsy, Familial Temporal Lobe, 3:


dizziness

Drugs & Therapeutics for Epilepsy, Familial Temporal Lobe, 3

Search Clinical Trials , NIH Clinical Center for Epilepsy, Familial Temporal Lobe, 3

Genetic Tests for Epilepsy, Familial Temporal Lobe, 3

Anatomical Context for Epilepsy, Familial Temporal Lobe, 3

MalaCards organs/tissues related to Epilepsy, Familial Temporal Lobe, 3:

42
Temporal Lobe

Publications for Epilepsy, Familial Temporal Lobe, 3

Articles related to Epilepsy, Familial Temporal Lobe, 3:

# Title Authors Year
1
Familial mesial temporal lobe epilepsy and the borderland of déjà vu. ( 28681459 )
2017
2
Suggestive linkage of familial mesial temporal lobe epilepsy to chromosome 3q26. ( 24315020 )
2014
3
MRI and EEG as long-term seizure outcome predictors in familial mesial temporal lobe epilepsy. ( 23197748 )
2012
4
Longitudinal MRI volumetric evaluation in patients with familial mesial temporal lobe epilepsy. ( 21431086 )
2011
5
Familial mesial temporal lobe epilepsy: a benign epilepsy syndrome showing complex inheritance. ( 20864493 )
2010
6
Familial mesial temporal lobe epilepsy (FMTLE) : a clinical and genetic study of 15 Italian families. ( 18004642 )
2008
7
Linkage study of voltage-gated potassium channels in familial mesial temporal lobe epilepsy. ( 17420821 )
2007
8
Familial mesial temporal lobe epilepsy maps to chromosome 4q13.2-q21.3. ( 17377072 )
2007
9
THE SCN2A gene is not a likely candidate for familial mesial temporal lobe epilepsy. ( 16914293 )
2006

Variations for Epilepsy, Familial Temporal Lobe, 3

Expression for Epilepsy, Familial Temporal Lobe, 3

Search GEO for disease gene expression data for Epilepsy, Familial Temporal Lobe, 3.

Pathways for Epilepsy, Familial Temporal Lobe, 3

GO Terms for Epilepsy, Familial Temporal Lobe, 3

Cellular components related to Epilepsy, Familial Temporal Lobe, 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 axon GO:0030424 9.33 KCNAB1 SCN2A SNCA
2 glutamatergic synapse GO:0098978 9.13 LGI1 NLGN1 SCN2A
3 rough endoplasmic reticulum GO:0005791 8.62 CA4 SNCA

Biological processes related to Epilepsy, Familial Temporal Lobe, 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 long-term synaptic potentiation GO:0060291 9.32 NLGN1 SNCA
2 synapse organization GO:0050808 9.26 NLGN1 SNCA
3 synaptic vesicle endocytosis GO:0048488 9.16 NLGN1 SNCA
4 positive regulation of synaptic transmission GO:0050806 8.96 LGI1 SNCA
5 synaptic vesicle transport GO:0048489 8.62 NLGN1 SNCA

Sources for Epilepsy, Familial Temporal Lobe, 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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